Papers
RefSeq ID
Protein change
DNA change
1–12 of 338 variants
NM_000027.4
p.C163S
c.488G>C
NM_000027.4
p.C163S
c.487T>A
NM_000027.4
p.R161Q
c.482G>A
NM_000027.4
p.S72P
c.214T>C
NM_000027.4
p.T122K
c.365C>A
NM_000027.4
p.C306R
c.916T>C
NM_000027.4
p.G60D
c.179G>A
NM_000027.4
p.G100E
c.299G>A
NM_000027.4
p.T149S
c.446C>G
NM_000027.4
p.G226D
c.677G>A
NM_000027.4
p.G302R
c.904G>A
NM_000027.4
p.C64*
c.192T>A